Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M216L

RHO

2,465 papers

RefSeq Summary

The protein encoded by this gene is found in rod cells in the back of the eye and is essential for vision in low-light conditions. The encoded protein binds to 11-cis retinal and is activated when lig...

Pfam Domains

Rhodopsin_Naa 2–37UCSCAmino terminal of the G-protein receptor rhodopsin
7tm_1aa 54–306UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

rhodopsin

HGNC Previous Symbol

RP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_000539.3
p.M216L
c.646A>C
Surrounding Variants
7 papers
NM_000539.3
p.M216L
c.646A>T
3 papers
NM_000539.3
p.M216delFs
c.646delA
15 papers
NM_000539.3
p.M216K
c.647T>A
12 papers
NM_000539.3
p.M216R
c.647T>G
1 paper
NM_000539.3
p.P215R
c.644C>G
25 papers
NM_000539.3
p.P215L
c.644C>T
1 paper
NM_000539.3
p.I217_I219del3
c.649_656del9
1 paper
NM_000539.3
p.I217V
c.649A>G
1 paper
NM_000539.3
p.I217F
c.649A>T
8 papers
NM_000539.3
p.P215T
c.643C>A
2 papers
NM_000539.3
p.P215A
c.643C>G
1 paper
NM_000539.3
p.I214I
c.642C>A
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